loading...| Preferred Name |
Holoprosencephaly |
|
| Synonyms |
HPE |
|
| Definitions |
A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2162 |
|
| alternative_term |
HPE |
|
| definition |
A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Not applicable X-linked dominant Multigenic/multifactorial Autosomal recessive Oligogenic |
|
| hasDbXref |
OMIM:609637 OMIM:614226 OMIM:147250 ICD-11:LA05.2 OMIM:236100 OMIM:609408 OMIM:610829 OMIM:610828 UMLS:C0079541 MeSH:D016142 OMIM:142945 OMIM:142946 ICD-10:Q04.2 MedDRA:10056304 OMIM:157170 OMIM:619895 OMIM:605934 OMIM:612530 |
|
| label |
Holoprosencephaly |
|
| notation |
ORPHA:2162 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_95495 http://www.orpha.net/ORDO/Orphanet_268926 http://www.orpha.net/ORDO/Orphanet_611327 |
|
| prefixIRI |
ORDO:Orphanet_2162 |
|
| prefLabel |
Holoprosencephaly |
|
| present_in |
United Kingdom AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000 Specific population AND has_birth_prevalence_average_value : 10.9 AND has_birth_prevalence_range : 1-5 / 10 000 Latin America AND has_birth_prevalence_average_value : 21.6 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 13.4 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 502.0 AND has_birth_prevalence_range : >1 / 1000 Taiwan, Province of China AND has_birth_prevalence_average_value : 60.6 AND has_birth_prevalence_range : 6-9 / 10 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_95495 http://www.orpha.net/ORDO/Orphanet_268926 http://www.orpha.net/ORDO/Orphanet_611327 |
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| subClassOf |